ClinVar Miner

Submissions for variant NM_005219.5(DIAPH1):c.635G>A (p.Arg212Gln)

gnomAD frequency: 0.00001  dbSNP: rs727504973
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000156386 SCV000206104 uncertain significance not specified 2014-03-15 criteria provided, single submitter clinical testing The Arg212Gln variant in DIAPH1 has not been previously reported in individuals with hearing loss and was absent from large population studies. Computational pr ediction tools and conservation analyses do not provide strong support for or ag ainst an impact to the protein. In summary, additional information is needed to determine the clinical significance of this variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV003764970 SCV004573579 uncertain significance Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 2023-03-14 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 179592). This variant has not been reported in the literature in individuals affected with DIAPH1-related conditions. This variant is present in population databases (rs727504973, gnomAD 0.002%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 212 of the DIAPH1 protein (p.Arg212Gln).

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